ClinVar Miner

List of variants reported as likely pathogenic for cerebral cortex disorder

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro) rs145372387 0.00005
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00003
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu) rs1048241141 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_032756.4(HPDL):c.788C>T (p.Thr263Met) rs116004018 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
46;XX;t(1;5)(p31;q33)dn
Multiple alleles
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly) rs1897876766
NM_000021.4(PSEN1):c.338+7A>G rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) rs63750353
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) rs267606983
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe) rs1362575880
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly) rs1575446166
NM_000817.3(GAD1):c.548-2A>C
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) rs199801114
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter) rs1008881855
NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter) rs2154199961
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg) rs2139187274
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg) rs2139537197
NM_001846.4(COL4A2):c.3625G>A (p.Gly1209Arg) rs2139538791
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522
NM_001846.4(COL4A2):c.957+2T>C rs1013146465
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_014874.4(MFN2):c.2220G>A (p.Trp740Ter) rs1060501925
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter) rs2149876234
NM_017721.5(CC2D1A):c.378+137_1641+1157del
NM_020738.4(KIDINS220):c.4497del (p.Arg1499fs) rs2147944830
NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs) rs2107644554
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs) rs1644248738
NM_144969.3(ZDHHC15):c.473A>G (p.His158Arg) rs1042821596
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246

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